ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1671C>T (p.Asp557=) (rs137877092)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756897 SCV000884868 benign not provided 2018-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246206 SCV000318689 benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769112 SCV000900485 benign Cardiomyopathy 2016-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000038803 SCV000236470 benign not specified 2014-07-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000402830 SCV000364931 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473043 SCV000559716 benign Dilated cardiomyopathy 1W 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038803 SCV000062481 benign not specified 2017-01-30 criteria provided, single submitter clinical testing p.Asp557Asp in exon 12 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and has been identifie d in 1.6% (105/6612) of European chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs137877092).

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